30 May 2023 : Case report
Outcomes from a Single Transplant Center of 5 Pediatric Cases of Domino Liver Transplantation from Live Donors with Maple Syrup Urine Disease
Jin-Ping Zhang12ABCDEFG, Zhi-Jun Zhu12AF*, Li-Ying Sun123EFG, Lin Wei
12AG, Wei Qu12CG, Zhi-Gui Zeng12CD, Hai-Ming Zhang12CE, Ying Liu123BD
DOI: 10.12659/AOT.939893
Ann Transplant 2023; 28:e939893
Table 2 Genes of the 3 OTCD children and Alagille child.
| Case | Primary disease | Gene | Chromosome position | Reference transcript | Exon | Nucleotide | Amino acid | Heterozygote/homozygous | Source of variation |
|---|---|---|---|---|---|---|---|---|---|
| 1 | OTCD | OTC | ChrX: 38226645-38226645 | NM_000531 | Exon2 | c.179C>G | p.S60* | Heterozygote | Heterozygous variation in mother, no variation in father |
| 2 | OTCD | OTC | ChrX: 38240682-38240682 | NM_000531 | Exon4 | c.386G>A | p.R129H | Heterozygote | Spontaneous mutation |
| 3 | Alagille | JAG1 | chr20: 10672802-10672802 | NM_000214 | Exon2 | c.759G>A | p.C253X | Heterozygote | Heterozygous variation in father, no variation in mother |
| 5 | OTCD | OTC | chrX: 38240682-38240682 | NM_000531 | Exon4 | c.386G> A | p.R129H | Heterozygote | Heterozygous variation in mother, no variation in father |
| OTCD – ornithine transcarboxylase deficiency. | |||||||||